Canonical Allele Identifier: CA4800114

Gene: CNGB3

Linked Data

• ClinVar Variation Id: 764299
• ClinVar RCV Id: RCV000942629
• dbSNP Id: rs149755970
• ExAC: 8:87645117 G / A
• gnomAD v2: 8-87645117-G-A
• gnomAD v3: 8-86632889-G-A
• gnomAD v4: 8-86632889-G-A
• MyVariant Identifiers: chr8:g.87645117G>A (hg19) ; chr8:g.86632889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.86632889G>A , CM000670.2:g.86632889G>A	GRCh38
NC_000008.10:g.87645117G>A , CM000670.1:g.87645117G>A	GRCh37
NC_000008.9:g.87714233G>A	NCBI36
NG_016980.1:g.115787C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320005.6:c.1183C>T MANE Select	ENSP00000316605.5:p.Leu395=
ENST00000681546.1:n.1003C>T
ENST00000681746.1:c.1183C>T	ENSP00000505959.1:p.Leu395=
ENST00000320005.5:c.1183C>T	ENSP00000316605.5:p.Leu395=
NM_019098.4:c.1183C>T	NP_061971.3:p.Leu395=
XM_011517138.1:c.769C>T	XP_011515440.1:p.Leu257=
XM_011517138.2:c.769C>T	XP_011515440.1:p.Leu257=
NM_019098.5:c.1183C>T MANE Select	NP_061971.3:p.Leu395=